Canonical Allele Identifier: CA1235787
Gene: SELL HGNC NCBI
FIRRM HGNC NCBI

Linked Data

dbSNP Id: rs183939594
ExAC: 1:169676574 C / T
gnomAD v2: 1-169676574-C-T
gnomAD v3: 1-169707433-C-T
gnomAD v4: 1-169707433-C-T
MyVariant Identifiers: chr1:g.169676574C>T (hg19) chr1:g.169707433C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169707433C>T , CM000663.2:g.169707433C>T GRCh38
NC_000001.10:g.169676574C>T , CM000663.1:g.169676574C>T GRCh37
NC_000001.9:g.167943198C>T NCBI36
NG_016132.1:g.9270G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.489G>A (SELL) MANE Select ENSP00000236147.5:p.Trp163Ter
ENST00000650983.1:c.528G>A (SELL) ENSP00000498227.1:p.Trp176Ter
ENST00000236147.4:c.528G>A (SELL) ENSP00000236147.4:p.Trp176Ter
ENST00000463108.5:n.689G>A (SELL)
ENST00000466340.1:n.501G>A (SELL)
ENST00000479657.5:n.241G>A (SELL)
ENST00000498289.5:n.851+23501C>T (FIRRM)
NM_000655.4:c.528G>A (SELL) NP_000646.2:p.Trp176Ter
NR_029467.1:n.457G>A (SELL)
NM_000655.5:c.489G>A (SELL) MANE Select NP_000646.3:p.Trp163Ter
NR_029467.2:n.458G>A (SELL)
Search 100 bp 5'
Search 100 bp 3'